Unit for Multidisciplinary Research in Biomedicine (UMIB)
Unidade Multidisciplinar de Investigação Biomédica
Laboratory for Integrative and Translational Research in Population Health (ITR)
AuthID: I-000-1CZ
Publications Actions
Publications at Authenticus Institutional Profile
An Authenticus institution (group) is an organization which consists of a set of researchers (institutional/group team). The set of researchers depends on the organizational structure of the institution per year and can be set at the institution profile, under ‘Researchers’ interface. Based on the institutional team we produce listings of publications, statistics and institutional reports.
Publications displayed at an Authenticus institutional profile depend on two parameters:
- Researchers team associated with the institution per year.
- Publications source type.
We define 3 types of publication sources:
- Validated by team members - includes all publications validated by team members. Requires the definition of the institutional team.
- All published by team members - includes all publications validated by the institution team members plus all not-validated (only identified) publications. Requires the definition of the institutional team.
- Affiliation Based - includes publications that have the institution/group in the publication affiliation. Does not require institutional team, but at the same time does not guarantee that all publications will be listed.
External
Internal
No data about last update.
Rules:
This actions updates publications citations of every team member.
Only validated by team members publications are included.
Only the current year team is included in this action.>
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a month!
Only validated by team members publications are included.
Only the current year team is included in this action.>
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a month!
No data about last update.
Rules:
This actions updates all pre print publications of the group/institution.
Only validated by current year team members publications are included.
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a day!
Only validated by current year team members publications are included.
The action is executed in the background, thus the results are NOT immediate.
This actions can be executed only once a day!
Publications Count: 2799
184 Team MembersFilters -> Year: 2026
721
TITLE: The Human Gene Mutation Database (HGMD(R)): optimizing its use in a clinical diagnostic or research setting Full Text
AUTHORS: Stenson, PD; Mort, M; Ball, EV; Chapman, M; Evans, K; Azevedo, L ; Hayden, M; Heywood, S; Millar, DS; Phillips, AD; Cooper, DN;
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 10, PAGES: 1197-1207
AUTHORS: Stenson, PD; Mort, M; Ball, EV; Chapman, M; Evans, K; Azevedo, L ; Hayden, M; Heywood, S; Millar, DS; Phillips, AD; Cooper, DN;
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 10, PAGES: 1197-1207
722
TITLE: The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII Full Text
AUTHORS: Wang, RY; Franco, JFD; Lopez Valdez, J; Martins, E ; Sutton, VR; Whitley, CB; Zhang, L; Cimms, T; Marsden, D; Jurecka, A; Harmatz, P;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 129, ISSUE: 3, PAGES: 219-227
AUTHORS: Wang, RY; Franco, JFD; Lopez Valdez, J; Martins, E ; Sutton, VR; Whitley, CB; Zhang, L; Cimms, T; Marsden, D; Jurecka, A; Harmatz, P;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 129, ISSUE: 3, PAGES: 219-227
723
TITLE: The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII (vol 129, pg 219, 2020) Full Text
AUTHORS: Wang, RY; Franco, JFD; Lopez Valdez, J; Martins, E ; Sutton, VR; Whitley, CB; Zhang, L; Cimms, T; Marsden, D; Jurecka, A; Harmatz, P;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 131, ISSUE: 1-2, PAGES: 285-285
AUTHORS: Wang, RY; Franco, JFD; Lopez Valdez, J; Martins, E ; Sutton, VR; Whitley, CB; Zhang, L; Cimms, T; Marsden, D; Jurecka, A; Harmatz, P;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 131, ISSUE: 1-2, PAGES: 285-285
INDEXED IN: 
WOS 
CrossRef
WOS CrossRef724
TITLE: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia Full Text
AUTHORS: Yau, WY; Raposo, M; Bettencourt, C; Labrum, R; Vasconcelos, J; Parkinson, MH; Giunti, P; Wood, NW; Lima, M ; Houlden, H;
PUBLISHED: 2020, SOURCE: BRAIN, VOLUME: 143, ISSUE: 4
AUTHORS: Yau, WY; Raposo, M; Bettencourt, C; Labrum, R; Vasconcelos, J; Parkinson, MH; Giunti, P; Wood, NW; Lima, M ; Houlden, H;
PUBLISHED: 2020, SOURCE: BRAIN, VOLUME: 143, ISSUE: 4
725
TITLE: Total, added and free sugar intakes, dietary sources and determinants of consumption in Portugal: the National Food, Nutrition and Physical Activity Survey (IAN-AF 2015-2016)
AUTHORS: Marinho, AR ; Severo, M ; Correia, D ; Lobato, L ; Vilela, S ; Oliveira, A ; Ramos, E ; Torres, Duarte ; Lopes, C ;
PUBLISHED: 2020, SOURCE: PUBLIC HEALTH NUTRITION, VOLUME: 23, ISSUE: 5, PAGES: 869-881
AUTHORS: Marinho, AR ; Severo, M ; Correia, D ; Lobato, L ; Vilela, S ; Oliveira, A ; Ramos, E ; Torres, Duarte ; Lopes, C ;
PUBLISHED: 2020, SOURCE: PUBLIC HEALTH NUTRITION, VOLUME: 23, ISSUE: 5, PAGES: 869-881
726
TITLE: Transthyretin interacts with actin regulators in a Drosophila model of familial amyloid polyneuropathy
AUTHORS: da Silva, MIO; Lopes, CS; Liz MA ;
PUBLISHED: 2020, SOURCE: SCIENTIFIC REPORTS, VOLUME: 10, ISSUE: 1
AUTHORS: da Silva, MIO; Lopes, CS; Liz MA ;
PUBLISHED: 2020, SOURCE: SCIENTIFIC REPORTS, VOLUME: 10, ISSUE: 1
727
TITLE: Twin Pregnancies, Crown-rump Length and Birthweight Discordancy: The Influence of Chorionicity Full Text
AUTHORS: Nunes, JS; Sousa, M ; Montenegro, N; Matias, A ;
PUBLISHED: 2020, SOURCE: REVISTA BRASILEIRA DE GINECOLOGIA E OBSTETRICIA, VOLUME: 42, ISSUE: 9, PAGES: 529-534
AUTHORS: Nunes, JS; Sousa, M ; Montenegro, N; Matias, A ;
PUBLISHED: 2020, SOURCE: REVISTA BRASILEIRA DE GINECOLOGIA E OBSTETRICIA, VOLUME: 42, ISSUE: 9, PAGES: 529-534
728
TITLE: Two Compound Heterozygous Variants inSNX14Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20 Full Text
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I ; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P ;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I ; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P ;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
729
TITLE: Tyrosinemia type III: a case report of siblings and literature review Full Text
AUTHORS: Barroso, F; Correia, J; Bandeira, A; Carmona, C; Vilarinho, L; Almeida, M; Rocha, JC ; Martins, E ;
PUBLISHED: 2020, SOURCE: REVISTA PAULISTA DE PEDIATRIA, VOLUME: 38
AUTHORS: Barroso, F; Correia, J; Bandeira, A; Carmona, C; Vilarinho, L; Almeida, M; Rocha, JC ; Martins, E ;
PUBLISHED: 2020, SOURCE: REVISTA PAULISTA DE PEDIATRIA, VOLUME: 38
730
TITLE: Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough Full Text
AUTHORS: Pereira, R ; Barbosa, T; Alves, A ; Santos, R; Oliveira, J ; Sousa, M ;
PUBLISHED: 2020, SOURCE: ADVANCES IN MEDICAL SCIENCES, VOLUME: 65, ISSUE: 1, PAGES: 1-11
AUTHORS: Pereira, R ; Barbosa, T; Alves, A ; Santos, R; Oliveira, J ; Sousa, M ;
PUBLISHED: 2020, SOURCE: ADVANCES IN MEDICAL SCIENCES, VOLUME: 65, ISSUE: 1, PAGES: 1-11
731
TITLE: Use of antioxidant could ameliorate the negative impact of etoposide on human sperm DNA during chemotherapy
AUTHORS: Rabaca, A; Ferreira, C ; Bernardino, R ; Alves, M ; Oliveira, P ; Viana, P; Barros, A ; Sousa, M ; Sa, R ;
PUBLISHED: 2020, SOURCE: REPRODUCTIVE BIOMEDICINE ONLINE, VOLUME: 40, ISSUE: 6, PAGES: 856-866
AUTHORS: Rabaca, A; Ferreira, C ; Bernardino, R ; Alves, M ; Oliveira, P ; Viana, P; Barros, A ; Sousa, M ; Sa, R ;
PUBLISHED: 2020, SOURCE: REPRODUCTIVE BIOMEDICINE ONLINE, VOLUME: 40, ISSUE: 6, PAGES: 856-866
732
TITLE: Use of flash glucose monitoring for post-bariatric hypoglycaemia diagnosis and management Full Text
AUTHORS: Lobato, CB ; Pereira, SS ; Guimaraes, M ; Morais, T ; Oliveira, P ; de Carvalho, JPM ; Nora, M; Monteiro, MP ;
PUBLISHED: 2020, SOURCE: SCIENTIFIC REPORTS, VOLUME: 10, ISSUE: 1
AUTHORS: Lobato, CB ; Pereira, SS ; Guimaraes, M ; Morais, T ; Oliveira, P ; de Carvalho, JPM ; Nora, M; Monteiro, MP ;
PUBLISHED: 2020, SOURCE: SCIENTIFIC REPORTS, VOLUME: 10, ISSUE: 1
733
TITLE: Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I ; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P ;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12, PAGES: 2476-2482
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I ; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P ;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12, PAGES: 2476-2482
734
TITLE: Validation of a model to predict six-month mortality in incident elderly dialysis patients
AUTHORS: Josefina Santos ; Pedro Oliveira; Jorge Malheiro; Andreia Campos; Sofia Correia; António Cabrita; Luísa Lobato; Isabel Fonseca;
PUBLISHED: 2020, SOURCE: Portuguese Journal of Nephrology & Hypertension, VOLUME: 35, ISSUE: 3
AUTHORS: Josefina Santos ; Pedro Oliveira; Jorge Malheiro; Andreia Campos; Sofia Correia; António Cabrita; Luísa Lobato; Isabel Fonseca;
PUBLISHED: 2020, SOURCE: Portuguese Journal of Nephrology & Hypertension, VOLUME: 35, ISSUE: 3
735
TITLE: Video-assisted Overtaking System Enabled by C-V2X Mode 4 Communications
AUTHORS: Magalhaes, P ; D'Orey, PM ; Andrade, MT ; Castro, F;
PUBLISHED: 2020, SOURCE: 16th International Conference on Wireless and Mobile Computing, Networking and Communications (IEEE WiMob) in 2020 16TH INTERNATIONAL CONFERENCE ON WIRELESS AND MOBILE COMPUTING, NETWORKING AND COMMUNICATIONS (WIMOB), VOLUME: 2020-October, PAGES: 382-387
AUTHORS: Magalhaes, P ; D'Orey, PM ; Andrade, MT ; Castro, F;
PUBLISHED: 2020, SOURCE: 16th International Conference on Wireless and Mobile Computing, Networking and Communications (IEEE WiMob) in 2020 16TH INTERNATIONAL CONFERENCE ON WIRELESS AND MOBILE COMPUTING, NETWORKING AND COMMUNICATIONS (WIMOB), VOLUME: 2020-October, PAGES: 382-387
736
TITLE: Viscous Leptomeningeal Pseudotumoural Masses and Multiple Cranial Neuropathy – Severe Presentation of Neurosarcoidosis
AUTHORS: Rita Ribeiro Dias; Inês Henriques Ferreira; Raquel Faria ;
PUBLISHED: 2020, SOURCE: European Journal of Case Reports in Internal Medicine, ISSUE: Vol 7 No 3
AUTHORS: Rita Ribeiro Dias; Inês Henriques Ferreira; Raquel Faria ;
PUBLISHED: 2020, SOURCE: European Journal of Case Reports in Internal Medicine, ISSUE: Vol 7 No 3
INDEXED IN: CrossRef
CrossRef737
TITLE: Why Should SARS-CoV-2 Post-Pandemic Recovery Funding Be Used to Foster a Physician-Scientist Program? Full Text
AUTHORS: Barbosa Breda, J ; Leal, I; Sousa, DC; Soares, CA ;
PUBLISHED: 2020, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 33, ISSUE: 9, PAGES: 628-628
AUTHORS: Barbosa Breda, J ; Leal, I; Sousa, DC; Soares, CA ;
PUBLISHED: 2020, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 33, ISSUE: 9, PAGES: 628-628
738
TITLE: A Portuguese Tool for Quality Assessment of Genetic Counselling by Genetics Healthcare Professionals Full Text
AUTHORS: Catarina Costa; Marina S Lemos; Carolina Lemos ; Miguel Alves Ferreira; Jorge Sequeiros; Milena Paneque ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
AUTHORS: Catarina Costa; Marina S Lemos; Carolina Lemos ; Miguel Alves Ferreira; Jorge Sequeiros; Milena Paneque ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
WOS739
TITLE: Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease Full Text
AUTHORS: Raposo, M; Ramos, A; Santos, C; Kazachkova, N; Teixeira, B; Bettencourt, C; Lima, M ;
PUBLISHED: 2019, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 56, ISSUE: 1, PAGES: 119-124
AUTHORS: Raposo, M; Ramos, A; Santos, C; Kazachkova, N; Teixeira, B; Bettencourt, C; Lima, M ;
PUBLISHED: 2019, SOURCE: MOLECULAR NEUROBIOLOGY, VOLUME: 56, ISSUE: 1, PAGES: 119-124
740
TITLE: Acute effect of an amino acid mixture in the rat glycemic profile Full Text
AUTHORS: Pena, MJ; Guerreiro, SG ; Rocha, JC ; Morais, T ; Pereira, SS ; Monteiro, MP ; Borges, N ;
PUBLISHED: 2019, SOURCE: JOURNAL OF CELLULAR BIOCHEMISTRY, VOLUME: 120, ISSUE: 8, PAGES: 13056-13065
AUTHORS: Pena, MJ; Guerreiro, SG ; Rocha, JC ; Morais, T ; Pereira, SS ; Monteiro, MP ; Borges, N ;
PUBLISHED: 2019, SOURCE: JOURNAL OF CELLULAR BIOCHEMISTRY, VOLUME: 120, ISSUE: 8, PAGES: 13056-13065
